gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010321 (AFR)
Genomes Max Group AF
0.00004739 (AFR)
Exomes Max Group AF
0.00011994 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725804C>G , CM000673.2:g.46725804C>G | GRCh38 |
| NC_000011.9:g.46747354C>G , CM000673.1:g.46747354C>G | GRCh37 |
| NC_000011.8:g.46703930C>G | NCBI36 |
| NG_008953.1:g.11612C>G , LRG_551:g.11612C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.560-55C>G MANE Select | ENSP00000308541.5:n.560-55C>G | |
| ENST00000311907.9:c.560-55C>G | ENSP00000308541.5:n.560-55C>G | |
| ENST00000442468.1:c.530-55C>G | ENSP00000387413.1:n.530-55C>G | |
| ENST00000490274.1:n.340-55C>G | ||
| ENST00000530231.5:c.560-55C>G | ENSP00000433907.1:n.560-55C>G | |
| NM_000506.3:c.560-55C>G | NP_000497.1:n.560-55C>G | |
| NM_000506.4:c.560-55C>G , LRG_551t1:c.560-55C>G | NP_000497.1:n.560-55C>G | |
| NM_001311257.1:c.512-55C>G | NP_001298186.1:n.512-55C>G | |
| XR_428840.2:n.604-55C>G | ||
| XR_428840.4:n.595-55C>G | ||
| NM_000506.5:c.560-55C>G MANE Select | NP_000497.1:n.560-55C>G | |
| NM_001311257.2:c.512-55C>G | NP_001298186.1:n.512-55C>G |